Considerations for clinical read alignment and mutational profiling using next-generation sequencing

מאת Oliver, Gavin R
יצא לאור 2012

“The molecule’s the thing:” the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results

מאת Oliver, Gavin R., Zimmermann, Michael T., Klee, Eric W., Urrutia, Raul A.
הוצא לאור ב F1000Res (2016)

Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties

מאת Zimmermann, Michael T., Urrutia, Raul, Cousin, Margot A., Oliver, Gavin R., Klee, Eric W.
הוצא לאור ב Front Genet (2018)

LeafCutterMD: an algorithm for outlier splicing detection in rare diseases

מאת Jenkinson, Garrett, Li, Yang I, Basu, Shubham, Cousin, Margot A, Oliver, Gavin R, Klee, Eric W
הוצא לאור ב Bioinformatics (2020)

Identification of differentially expressed sense and antisense transcript pairs in breast epithelial tissues

מאת Grigoriadis, Anita, Oliver, Gavin R, Tanney, Austin, Kendrick, Howard, Smalley, Matt J, Jat, Parmjit, Neville, A Munro
יצא לאור 2009

Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia

מאת Morales‐Rosado, Joel A., Macke, Erica L., Cousin, Margot A., Oliver, Gavin R., Dhamija, Radhika, Klee, Eric W.
הוצא לאור ב Mol Genet Genomic Med (2020)

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation...

מאת Zimmermann, Michael T., Urrutia, Raul, Oliver, Gavin R., Blackburn, Patrick R., Cousin, Margot A., Bozeck, Nicole J., Klee, Eric W.
הוצא לאור ב PLoS One (2017)

PANDA: pathway and annotation explorer for visualizing and interpreting gene-centric data

מאת Hart, Steven N., Moore, Raymond M., Zimmermann, Michael T., Oliver, Gavin R., Egan, Jan B., Bryce, Alan H., Kocher, Jean-Pierre A.
הוצא לאור ב PeerJ (2015)

A smooth muscle tone-dependent stretch-activated migrating motor pattern in isolated guinea-pig distal colon

מאת Smith, Terence K, Oliver, Gavin R, Hennig, Grant W, O'Shea, Deirdre M, Berghe, Pieter Vanden, Kang, Sok Han, Spencer, Nick J
יצא לאור 2003

The Colorectal cancer disease-specific transcriptome may facilitate the discovery of more biologically and clinically relevant information

מאת Allen, Wendy L, Jithesh, Puthen V, Oliver, Gavin R, Proutski, Irina, Longley, Daniel B, Lenz, Heinz-Josef, Proutski, Vitali, Harkin, Paul, Johnston, Patrick G
יצא לאור 2010

Long-range Transcriptome Sequencing Reveals Cancer Cell Growth Regulatory Chimeric mRNA

מאת Plebani, Roberto, Oliver, Gavin R, Trerotola, Marco, Guerra, Emanuela, Cantanelli, Pamela, Apicella, Luana, Emerson, Andrew, Albiero, Alessandro, Harkin, Paul D, Kennedy, Richard D, Alberti, Saverio
יצא לאור 2012

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling

מאת Cousin, Margot A., Zimmermann, Michael T., Mathison, Angela J., Blackburn, Patrick R., Boczek, Nicole J., Oliver, Gavin R., Lomberk, Gwen A., Urrutia, Raul A., Deyle, David R., Klee, Eric W.
הוצא לאור ב Cold Spring Harb Mol Case Stud (2017)

The Hedgehog pathway as targetable vulnerability with 5-azacytidine in myelodysplastic syndrome and acute myeloid leukemia

מאת Tibes, Raoul, Al-Kali, Aref, Oliver, Gavin R, Delman, Devora H, Hansen, Nanna, Bhagavatula, Keerthi, Mohan, Jayaram, Rakhshan, Fariborz, Wood, Thomas, Foran, James M., Mesa, Ruben A., Bogenberger, James M.
הוצא לאור ב J Hematol Oncol (2015)

Generation of a non-small cell lung cancer transcriptome microarray

מאת Tanney, Austin, Oliver, Gavin R, Farztdinov, Vadim, Kennedy, Richard D, Mulligan, Jude M, Fulton, Ciaran E, Farragher, Susan M, Field, John K, Johnston, Patrick G, Harkin, D Paul, Proutski, Vitali, Mulligan, Karl A
יצא לאור 2008

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease

מאת Oliver, Gavin R., Tang, Xiaojia, Schultz-Rogers, Laura E., Vidal-Folch, Noemi, Jenkinson, W. Garrett, Schwab, Tanya L., Gaonkar, Krutika, Cousin, Margot A., Nair, Asha, Basu, Shubham, Chanana, Pritha, Oglesbee, Devin, Klee, Eric W.
הוצא לאור ב PLoS One (2019)

RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

מאת Oliver, Gavin R., Blackburn, Patrick R., Ellingson, Marissa S., Conboy, Erin, Pinto e Vairo, Filippo, Webley, Matthew, Thorland, Erik, Ferber, Matthew, Van Hul, Els, van der Werf, Ilse M., Wuyts, Wim, Babovic‐Vuksanovic, Dusica, Klee, Eric W.
הוצא לאור ב Mol Genet Genomic Med (2019)

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

מאת Boczek, Nicole J., Hopp, Katharina, Benoit, Lacey, Kraft, Daniel, Cousin, Margot A., Blackburn, Patrick R., Madsen, Charles D., Oliver, Gavin R., Nair, Asha A., Na, Jie, Bianchi, Diana W., Beek, Geoffrey, Harris, Peter C., Pichurin, Pavel, Klee, Eric W.
הוצא לאור ב Eur J Hum Genet (2018)

PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data

מאת Wang, Chen, Evans, Jared M., Bhagwate, Aditya V., Prodduturi, Naresh, Sarangi, Vivekananda, Middha, Mridu, Sicotte, Hugues, Vedell, Peter T., Hart, Steven N., Oliver, Gavin R., Kocher, Jean-Pierre A., Maurer, Matthew J., Novak, Anne J., Slager, Susan L., Cerhan, James R., Asmann, Yan W.
יצא לאור 2014

Comprehensive Genomic Profiling of a Rare Thyroid Follicular Dendritic Cell Sarcoma

מאת Davila, Jaime I., Starr, Jason S., Attia, Steven, Wang, Chen, Knudson, Ryan A., Necela, Brian M., Sarangi, Vivekananda, Sun, Zhifu, Ren, Yingxue, Casler, John D., Menke, David M., Oliver, Gavin R., Joseph, Richard W., Copland, John A., Parker, Alexander S., Kocher, Jean-Pierre A., Thompson, E. Aubrey, Smallridge, Robert C., Asmann, Yan W.
הוצא לאור ב Rare Tumors (2017)

LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth

מאת Oliver, Gavin R., Marcano-Bonilla, Sofia, Quist, Jonathan, Tolosa, Ezequiel J., Iguchi, Eriko, Swanson, Amy A., Hoppman, Nicole L., Schwab, Tanya, Sigafoos, Ashley, Prodduturi, Naresh, Voss, Jesse S., Knight, Shannon M., Zhang, Jin, Fadra, Numrah, Urrutia, Raul, Zimmerman, Michael, Egan, Jan B., Bilyeu, Anthony G., Jen, Jin, Veras, Ema, Al-Safi, Rema’a, Block, Matthew, Kerr, Sarah, Fernandez-Zapico, Martin E., Schoolmeester, John K., Klee, Eric W.
הוצא לאור ב PLoS One (2021)